Cytoscape Web
Click node...

Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
Autosomal dominant progressive external ophthalmoplegia
5 OMIM references -
5 associated genes
No signs/symptoms info
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Autosomal dominant progressive external ophthalmoplegia

RRM2B
(UniProt - OMIM)
 C10ORF2
(UniProt - OMIM)
POLG
(UniProt - OMIM)
POLG2
(UniProt - OMIM)
RRM2B
(UniProt - OMIM)
SLC25A4
(UniProt - OMIM)

COMMON
GENES 		RRM2B


Citations in the biomedical literature:


Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
RRM2B
Autosomal dominant progressive external ophthalmoplegia
C10ORF2 POLG POLG2 SLC25A4



Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Autosomal dominant progressive external ophthalmoplegia

Synonym(s):
- mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Synonym(s):
- adPEO
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the eye and adnexa -
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
5 OMIM references -
No MeSH references
No signs/symptoms info available.